Approaches to Sequence the HTT CAG Repeat Expansion and Quantify Repeat Length Variation.

ABSTRACT:

Background

Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder caused by the expansion of the HTT CAG repeat. Affected individuals inherit ≥36 repeats and longer alleles cause earlier onset, greater disease severity and faster disease progression. The HTT CAG repeat is genetically unstable in the soma in a process that preferentially generates somatic expansions, the proportion of which is associated with disease onset, severity and progression. Somatic mosaicism of the HTT CAG repeat has traditionally been assessed by semi-quantitative PCR-electrophoresis approaches that have limitations (e.g., no information about sequence variants). Genotyping-by-sequencing could allow for some of these limitations to be overcome.

Objective

To investigate the uti

SUBMITTER: Ciosi M 

PROVIDER: S-EPMC7990409 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature